HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750545C>A , CM000684.2:g.27750545C>A | GRCh38 |
NC_000022.10:g.28146533C>A , CM000684.1:g.28146533C>A | GRCh37 |
NC_000022.9:g.26476533C>A | NCBI36 |
NG_023258.1:g.55954G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.858G>T | ||
ENST00000302326.5:c.*370G>T MANE Select | ENSP00000304956.4:n.*370G>T | |
ENST00000302326.4:c.*370G>T | ENSP00000304956.4:n.*370G>T | |
ENST00000424656.1:c.455+231G>T | ||
NM_002430.2:c.*370G>T | NP_002421.3:n.*370G>T | |
NM_002430.3:c.*370G>T MANE Select | NP_002421.3:n.*370G>T |